LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs116928232
rs116928232
0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.740 1.000 13 1993 2019
dbSNP: rs121965086
rs121965086
0.925 0.080 10 89225168 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1994 2015
dbSNP: rs587778878
rs587778878
1.000 0.080 10 89228368 missense variant C/A snv 8.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 7 1990 2013
dbSNP: rs1554865214
rs1554865214
1.000 0.080 10 89222522 missense variant G/A snv
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1994 2015
dbSNP: rs779712562
rs779712562
1.000 0.080 10 89245712 stop gained G/A snv 2.0E-05 3.5E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1997 2015
dbSNP: rs1423914418
rs1423914418
0.925 0.080 10 89228242 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 3 1994 2020
dbSNP: rs267607218
rs267607218
0.925 0.080 10 89223710 stop gained C/A snv 4.0E-06 3.5E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 3 1996 2015
dbSNP: rs776472526
rs776472526
1.000 0.080 10 89215004 missense variant C/T snv 8.0E-06 3.5E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 3 1999 2015
dbSNP: rs1554865206
rs1554865206
1.000 0.080 10 89222513 stop gained G/A snv
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1996 1996
dbSNP: rs1554866097
rs1554866097
1.000 0.080 10 89228345 missense variant A/T snv
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2014 2019
dbSNP: rs747508159
rs747508159
1.000 0.080 10 89223832 splice acceptor variant T/A;C snv 4.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1996 2015
dbSNP: rs749180806
rs749180806
1.000 0.080 10 89228372 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2014 2019
dbSNP: rs767688436
rs767688436
1.000 0.080 10 89228334 missense variant G/C snv 1.2E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2015 2019
dbSNP: rs770074196
rs770074196
1.000 0.080 10 89223822 frameshift variant A/- delins 1.4E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1999 2014
dbSNP: rs772684869
rs772684869
1.000 0.080 10 89214958 missense variant A/G snv 4.0E-05 7.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2014 2019
dbSNP: rs1457072724
rs1457072724
1.000 0.080 10 89228209 stop gained C/T snv 7.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2012 2012
dbSNP: rs1554866004
rs1554866004
1.000 0.080 10 89228199 splice donor variant C/T snv
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs762559980
rs762559980
1.000 0.080 10 89226951 frameshift variant T/- delins 1.4E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs766364179
rs766364179
1.000 0.080 10 89228319 missense variant G/T snv 4.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs770407719
rs770407719
0.925 0.080 10 89215021 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs771640357
rs771640357
0.882 0.120 10 89215938 missense variant C/G snv 4.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs780495201
rs780495201
0.925 0.080 10 89225172 frameshift variant -/A delins 1.2E-05 1.4E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1994 1994
dbSNP: rs1204744283
rs1204744283
1.000 0.080 10 89223683 splice donor variant C/G;T snv 7.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121965087
rs121965087
1.000 0.080 10 89245776 stop gained G/C snv
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554864404
rs1554864404
1.000 0.080 10 89215944 stop gained G/T snv
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0